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Two cases of microvillus inclusion disease caused by MYO5B deficiency with prenatal abnormalities

Jiaqi Lu1, Yiming Qi1, Hongke Ding1

  • 1Medical Genetics Centre, Guangdong Women and Children Hospital, Guangzhou, China.

Prenatal Diagnosis
|November 24, 2021
PubMed
Abstract

Insights

Microvillus inclusion disease (MVID) is a severe infant condition causing watery diarrhea and malnutrition. Genetic testing identified MYO5B mutations as the cause in two cases with prenatal ultrasound abnormalities.

Area of Science:

  • Genetics
  • Pediatric Gastroenterology

Background:

  • Microvillus inclusion disease (MVID) presents as severe, intractable watery diarrhea and malnutrition in newborns.
  • Prenatal ultrasound may reveal bowel dilation or increased amniotic fluid, suggesting potential MVID cases.

Observation:

  • Two patients presented with intractable diarrhea postnatally, following prenatal ultrasound findings of bowel abnormalities.

Findings:

  • Exome sequencing identified compound heterozygous MYO5B mutations in both affected infants.
  • These MYO5B mutations were maternally and paternally inherited.

Implications:

  • MYO5B deficiency is a common genetic cause of MVID, often associated with specific prenatal ultrasound findings.
  • Early prenatal diagnosis of MVID allows for informed genetic counseling regarding fetal prognosis and management options.

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